ClinVar Miner

Submissions for variant NM_000384.3(APOB):c.26TGGCGCTGC[1] (p.9LAL[1])

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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics,PreventionGenetics RCV000251913 SCV000303941 likely benign not specified criteria provided, single submitter clinical testing
Cardiovascular Research Group,Instituto Nacional de Saude Doutor Ricardo Jorge RCV000256231 SCV000322822 benign Familial hypercholesterolemia 1 2016-03-01 criteria provided, single submitter research
Illumina Clinical Services Laboratory,Illumina RCV000256231 SCV000427196 likely benign Familial hypercholesterolemia 1 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV000251913 SCV000568078 benign not specified 2016-10-27 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Laboratory of Genetics and Molecular Cardiology, University of São Paulo RCV000256231 SCV000588409 benign Familial hypercholesterolemia 1 2016-03-01 criteria provided, single submitter research
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease,Montreal Heart Institute RCV000845489 SCV000987587 benign not provided criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000251913 SCV001469338 benign not specified 2019-11-22 criteria provided, single submitter clinical testing
Invitae RCV001519539 SCV001728420 benign Familial hypercholesterolemia 2; Hypobetalipoproteinemia, familial, 1 2020-12-06 criteria provided, single submitter clinical testing
Department of Pathology and Laboratory Medicine,Sinai Health System RCV000845489 SCV001550340 uncertain significance not provided no assertion criteria provided clinical testing multiple AR variants in same gene - keep for nowAllele frequency is common in at least one population database (frequency: 26.862% in gnomAD_Genomes) based on the frequency threshold of 1.253% for this gene.Variant was observed in a homozygous state in population databases more than expected for disease.In-frame deletion in a repetitive region is less likely to be pathogenic.

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